AutismKB 2.0

Evidence Details for HSPA1A


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Basic Information Top
Gene Symbol:HSPA1A ( FLJ54303,FLJ54370,FLJ54392,FLJ54408,FLJ75127,HSP70-1,HSP70-1A,HSP70I,HSP72,HSPA1,HSPA1B )
Gene Full Name: heat shock 70kDa protein 1A
Band: 6p21.33
Quick LinksEntrez ID:3303; OMIM: 140550; Uniprot ID:HSP71_HUMAN; ENSEMBL ID: ENSG00000204389; HGNC ID: 5232
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSPA1A|3303|nucleotide
ATGGCCAAAGCCGCGGCGATCGGCATCGACCTGGGCACCACCTACTCCTGCGTGGGGGTGTTCCAACACGGCAAGGTGGAGATCATCGCCAACGACCAGGGCAAC
CGCACCACCCCCAGCTACGTGGCCTTCACGGACACCGAGCGGCTCATCGGGGATGCGGCCAAGAACCAGGTGGCGCTGAACCCGCAGAACACCGTGTTTGACGCG
AAGCGGCTGATTGGCCGCAAGTTCGGCGACCCGGTGGTGCAGTCGGACATGAAGCACTGGCCTTTCCAGGTGATCAACGACGGAGACAAGCCCAAGGTGCAGGTG
AGCTACAAGGGGGAGACCAAGGCATTCTACCCCGAGGAGATCTCGTCCATGGTGCTGACCAAGATGAAGGAGATCGCCGAGGCGTACCTGGGCTACCCGGTGACC
AACGCGGTGATCACCGTGCCGGCCTACTTCAACGACTCGCAGCGCCAGGCCACCAAGGATGCGGGTGTGATCGCGGGGCTCAACGTGCTGCGGATCATCAACGAG
CCCACGGCCGCCGCCATCGCCTACGGCCTGGACAGAACGGGCAAGGGGGAGCGCAACGTGCTCATCTTTGACCTGGGCGGGGGCACCTTCGACGTGTCCATCCTG
ACGATCGACGACGGCATCTTCGAGGTGAAGGCCACGGCCGGGGACACCCACCTGGGTGGGGAGGACTTTGACAACAGGCTGGTGAACCACTTCGTGGAGGAGTTC
AAGAGAAAACACAAGAAGGACATCAGCCAGAACAAGCGAGCCGTGAGGCGGCTGCGCACCGCCTGCGAGAGGGCCAAGAGGACCCTGTCGTCCAGCACCCAGGCC
AGCCTGGAGATCGACTCCCTGTTTGAGGGCATCGACTTCTACACGTCCATCACCAGGGCGAGGTTCGAGGAGCTGTGCTCCGACCTGTTCCGAAGCACCCTGGAG
CCCGTGGAGAAGGCTCTGCGCGACGCCAAGCTGGACAAGGCCCAGATTCACGACCTGGTCCTGGTCGGGGGCTCCACCCGCATCCCCAAGGTGCAGAAGCTGCTG
CAGGACTTCTTCAACGGGCGCGACCTGAACAAGAGCATCAACCCCGACGAGGCTGTGGCCTACGGGGCGGCGGTGCAGGCGGCCATCCTGATGGGGGACAAGTCC
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>HSPA1A|3303|protein
MAKAAAIGIDLGTTYSCVGVFQHGKVEIIANDQGNRTTPSYVAFTDTERLIGDAAKNQVALNPQNTVFDAKRLIGRKFGDPVVQSDMKHWPFQVINDGDKPKVQV
SYKGETKAFYPEEISSMVLTKMKEIAEAYLGYPVTNAVITVPAYFNDSQRQATKDAGVIAGLNVLRIINEPTAAAIAYGLDRTGKGERNVLIFDLGGGTFDVSIL
TIDDGIFEVKATAGDTHLGGEDFDNRLVNHFVEEFKRKHKKDISQNKRAVRRLRTACERAKRTLSSSTQASLEIDSLFEGIDFYTSITRARFEELCSDLFRSTLE
PVEKALRDAKLDKAQIHDLVLVGGSTRIPKVQKLLQDFFNGRDLNKSINPDEAVAYGAAVQAAILMGDKSENVQDLLLLDVAPLSLGLETAGGVMTALIKRNSTI
PTKQTQIFTTYSDNQPGVLIQVYEGERAMTKDNNLLGRFELSGIPPAPRGVPQIEVTFDIDANGILNVTATDKSTGKANKITITNDKGRLSKEEIERMVQEAEKY
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (2) 0 (0) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 3
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Purcell, 2001_2 America cerebellum 9
(-)
-autism 4
(-)
-1.41 Down -
  • Platform: UniGEM V2 array
  • ProbeSet: -
  • RefSeq_ID/ EST: M59828
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
Gregg, 2008_1 mixed lymphoblastoid cell lines 35
(14.29%)
autismautism 12
(25.00%)
1.516 Up 0.00331
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 202581_at
  • RefSeq_ID/ EST: NM_005346
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Gregg, 2008_3 mixed lymphoblastoid cell lines 18
(16.67%)
autism with regression autism 12
(25.00%)
1.507 Up 0.0355
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 202581_at
  • RefSeq_ID/ EST: NM_005346
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.69706 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1789074
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
2.19432 Up 0.0375179
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1789074
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018